(Q58193972)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10390621%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

title

UFD1L and CDC45L: a role in DiGeorge syndrome and related phenotypes? (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10390621%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10390621%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

Francesca Amati

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10390621%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

Bruno Dallapiccola

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10390621%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

publication date

1 July 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10390621%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10390621%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

volume

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10390621%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10390621%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

page(s)

251-254

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10390621%20AND%20SRC:MED&resulttype=core&format=json

Congenital heart defects and 22q11 deletions: which genes count?

9 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2899%2901772-2

7 January 2021

DiGeorge syndrome: part of CATCH 22.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2899%2901772-2

7 January 2021

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2899%2901772-2

7 January 2021

Neural crest cells contribute to normal aorticopulmonary septation

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2899%2901772-2

7 January 2021

Genetic disorders of cardiac morphogenesis. The DiGeorge and velocardiofacial syndromes

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2899%2901772-2

7 January 2021

Structural and mutational analysis of a conserved gene (DGSI) from the minimal DiGeorge syndrome critical region

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2899%2901772-2

7 January 2021

A novel 22q11.2 microdeletion in DiGeorge syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2899%2901772-2

7 January 2021

A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2899%2901772-2

7 January 2021

The human homolog of Saccharomyces cerevisiae CDC45

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2899%2901772-2

7 January 2021

UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2899%2901772-2

7 January 2021

A proteolytic pathway that recognizes ubiquitin as a degradation signal

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2899%2901772-2

7 January 2021

The Uba2 and Ufd1 proteins of Saccharomyces cerevisiae interact with poly(A) polymerase and affect the polyadenylation activity of cell extracts

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2899%2901772-2

7 January 2021

Structure and expression of the human ubiquitin fusion-degradation gene (UFD1L).

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2899%2901772-2

7 January 2021

Regulation of cardiac mesodermal and neural crest development by the bHLH transcription factor, dHAND

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2899%2901772-2

7 January 2021

HIRA, a DiGeorge syndrome candidate gene, is required for cardiac outflow tract septation.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2899%2901772-2

7 January 2021

Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2899%2901772-2

7 January 2021

ES2, a gene deleted in DiGeorge syndrome, encodes a nuclear protein and is expressed during early mouse development, where it shares an expression domain with a Goosecoid-like gene

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2899%2901772-2

7 January 2021

Chromatin structure and cardiac gene expression

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2899%2901772-2

7 January 2021

Position effect in human genetic disease

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2899%2901772-2

7 January 2021

In vivo nuclease hypersensitivity studies reveal multiple sites of parental origin-dependent differential chromatin conformation in the 150 kb SNRPN transcription unit

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2899%2901772-2

7 January 2021

The dose of a putative ubiquitin-specific protease affects position-effect variegation in Drosophila melanogaster

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2899%2901772-2

7 January 2021

DiGeorge syndrome and 22q11 rearrangements

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2899%2901772-2

7 January 2021

Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2899%2901772-2

7 January 2021

Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2899%2901772-2

7 January 2021

Detection of an atypical 22q11 deletion that has no overlap with the DiGeorge syndrome critical region

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2899%2901772-2

7 January 2021

10.1016/S0168-9525(99)01772-2

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10390621%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

1 reference